rs17580(A;T)

Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency

Magnitude
2.3Worth knowing
Repute
Bad
Frequency
3%Average of 4 populations
On SNPedia
rs17580(A;T)Minus strand
Gene
SERPINA1

Frequency

Share of people with A;T in each HapMap population.

  • European ancestry (Utah)10%
  • Han Chinese (Beijing)0%
  • Japanese (Tokyo)0%
  • Yoruba (Nigeria)0%

Other genotypes of rs17580

  1. T;TGoodcommon in complete genomicsTypical · 0.098% of people
  2. A;AMost notableBada slightly reduced functionality form of Alpha-1 Antitrypsin DeficiencyWorth knowing · 2.50% of people

All about rs17580

Notes

From SNPedia

This genotype corresponds to a carrier of one PiS variant for alpha-1-antitrypsin deficiency; individual carrying two PiS variants have 60% of normal enzymatic activity. On its own, carrying one PiS variant has little consequence, however, 3-4% of individuals carrying one PiS variant also carry one copy of the more severe PiZ variant, rs28929474(A), which is associated with an increased risk of emphysema and COPD.

Source and license

Adapted from rs17580(A;T) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.